Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111077196G>A , CM000667.2:g.111077196G>A | GRCh38 |
| NC_000005.9:g.110412894G>A , CM000667.1:g.110412894G>A | GRCh37 |
| NC_000005.8:g.110440793G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033035.5:c.*1122G>A MANE Select | NP_149024.1:n.*1122G>A |
| ENST00000344895.4:c.*1122G>A MANE Select | ENSP00000339804.3:n.*1122G>A |
| NM_033035.4:c.*1122G>A | NP_149024.1:n.*1122G>A |
| NM_138551.4:c.*1122G>A | NP_612561.2:n.*1122G>A |
| NM_138551.5:c.*1122G>A | NP_612561.2:n.*1122G>A |
| NR_045089.1:n.3006G>A | |
| NR_045089.2:n.3024G>A | |
| ENST00000379706.4:c.*1122G>A | ENSP00000427827.1:n.*1122G>A |